Muscle diseases cover a diverse group of disorders that in most cases are hereditary. The rarity of the individual muscle diseases provides a challenge for researchers when wanting to establish natural history of the conditions and when trying to develop diagnostic tools, therapies, and outcome measures to evaluate disease progression. With emerging molecular therapies in many genetic muscle diseases, as well as biological therapies for the immune-mediated ones, biological biomarkers play an important role in both drug development and evaluation. In this review, we focus on the role of biological biomarkers in muscle diseases and discuss their utility as surrogate endpoints in therapeutic trials. We categorise these as either 1) disease unspecific markers, 2) markers of specific pathways that may be used for more than one disease or 3) disease-specific markers. We also propose that evaluation of specific therapeutic interventions benefits from biological markers that match the intervention.

中文翻译：

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与治疗随访和评估相关的肌肉疾病中的生物标志物


肌肉疾病涵盖多种疾病，在大多数情况下是遗传性的。当研究人员想要建立这些疾病的自然史以及试图开发诊断工具、疗法和结果测量来评估疾病进展时，个体肌肉疾病的罕见性给研究人员带来了挑战。随着许多遗传性肌肉疾病的新兴分子疗法以及免疫介导疾病的生物疗法，生物生物标志物在药物开发和评估中发挥着重要作用。在这篇综述中，我们重点介绍了生物生物标志物在肌肉疾病中的作用，并讨论了它们在治疗试验中作为替代终点的效用。我们将这些分类为 1） 疾病非特异性标志物，2） 可用于多种疾病的特定途径的标志物，或 3） 疾病特异性标志物。我们还建议，对特定治疗干预的评估受益于与干预相匹配的生物标志物。